Canonical Allele Identifier: CA422672243

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057551A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088421A>T , CM000663.2:g.197088421A>T	GRCh38
NC_000001.10:g.197057551A>T , CM000663.1:g.197057551A>T	GRCh37
NC_000001.9:g.195324174A>T	NCBI36
NG_015867.1:g.63274T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3283T>A
ENST00000367409.9:c.9996T>A MANE Select	ENSP00000356379.4:p.Thr3332=
ENST00000680265.1:c.10218T>A	ENSP00000505384.1:p.Thr3406=
ENST00000680710.1:c.9972T>A	ENSP00000506676.1:p.Thr3324=
ENST00000294732.11:c.5241T>A	ENSP00000294732.7:p.Thr1747=
ENST00000367408.5:c.2991T>A	ENSP00000356378.1:p.Thr997=
ENST00000367409.8:c.9996T>A	ENSP00000356379.4:p.Thr3332=
ENST00000612785.1:c.3954T>A	ENSP00000479244.1:p.Thr1318=
NM_001206846.1:c.5241T>A	NP_001193775.1:p.Thr1747=
NM_018136.4:c.9996T>A	NP_060606.3:p.Thr3332=
NM_018136.5:c.9996T>A MANE Select	NP_060606.3:p.Thr3332=
NM_001206846.2:c.5241T>A	NP_001193775.1:p.Thr1747=